SHKBP1 (SH3KBP1 Binding Protein 1)
A scaffold protein involved in receptor trafficking and signaling, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | SHKBP1 |
|---|---|
| Full Name | SH3KBP1 Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 92799 ncbi.nlm.nih.gov/gene/92799 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q8TBC5 |
| OMIM ID | 619089 |
| HGNC ID | 25693 |
| Aliases | SH3KBP1BP, FLJ20297, MGC138207 |
Description
SHKBP1 encodes a scaffold protein that binds SH3KBP1 (CIN85) and modulates endocytic trafficking of receptor tyrosine kinases, such as EGFR. It is involved in cell proliferation, migration, and survival pathways. Altered expression and mutations have been linked to various cancers and neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SHKBP1 enhances EGFR recycling, promoting sustained signaling and cell proliferation. | PMID: 23431136 |
| Lung adenocarcinoma | SHKBP1 amplification correlates with poor prognosis and increased tumor growth. | PMID: 29367642 |
| Intellectual disability | Homozygous loss-of-function mutations in SHKBP1 impair synaptic receptor trafficking. | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| A549 | 8.5 | Moderate expression |
| MCF7 | 6.2 | Low expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.1% | Loss of function; associated with intellectual disability |
| c.1573G>A (p.Glu525Lys) | Missense | 0.2% | Unknown significance; reported in COSMIC |
| Amplification | Copy number gain | 5-10% in lung cancer | Increased expression; oncogenic potential |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing endocytic regulation.
Gain of Function (GOF)
Amplification leading to overexpression, enhancing EGFR recycling and signaling.
Dominant Negative (DN)
Not reported for SHKBP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • endocytosis | • regulation of cell proliferation |
| • receptor internalization |
Pathways
• EGFR signaling pathway
• Endocytosis
• Receptor tyrosine kinase signaling
Protein Summary
SHKBP1 is a 665-amino acid scaffold protein containing SH3-binding motifs. It interacts with SH3KBP1 and other endocytic proteins to regulate the internalization and recycling of cell surface receptors, particularly EGFR. Through this mechanism, it modulates cell growth, migration, and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHKBP1 Knockout HEK293 Cell Line | EDJ-KQ2959 | Human | 92799 | Details Get a Quote |
| SHKBP1 Knockout A-549 Cell Line | EDJ-KQ24101 | Human | 92799 | Details Get a Quote |
| SHKBP1 Knockout HCT 116 Cell Line | EDJ-KQ24102 | Human | 92799 | Details Get a Quote |
| SHKBP1 Knockout HeLa Cell Line | EDJ-KQ24103 | Human | 92799 | Details Get a Quote |
